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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: de la cruz e. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.
Esselin F, Mouzat K, Polge A, Juntas-Morales R, Pageot N, De la Cruz E, Bernard E, Lagrange E, Danel V, Alphandery S, Labar L, Nogué E, Picot MC, Lumbroso S, Camu W. Esselin F, et al. Among authors: de la cruz e. Front Neurosci. 2020 Apr 28;14:316. doi: 10.3389/fnins.2020.00316. eCollection 2020. Front Neurosci. 2020. PMID: 32410933 Free PMC article.
Therapeutic tools for familial ALS.
Camu W, De La Cruz E, Esselin F. Camu W, et al. Among authors: de la cruz e. Rev Neurol (Paris). 2023 Jan-Feb;179(1-2):49-53. doi: 10.1016/j.neurol.2022.10.001. Epub 2022 Dec 8. Rev Neurol (Paris). 2023. PMID: 36503675 Review.
A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial.
Lombardo FL, Spila Alegiani S, Mayer F, Cipriani M, Lo Giudice M, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH, Hardiman O, Nicolini G, Vanacore N, Dickie B, Albanese A, Puopolo M; TUDCA-ALS Study Group. Lombardo FL, et al. Trials. 2023 Dec 5;24(1):792. doi: 10.1186/s13063-023-07638-w. Trials. 2023. PMID: 38053196 Free PMC article. Clinical Trial.
244 results